Abstract: Objective　To investigate the value of 17-OH-progesterone (17-OHP) and adrenocorticotropic hormone (ACTH) combined with serum testosterone in the early screening of neonatal congenital adrenal hyperplasia (CAH). Methods　Forty newborns with CAH admitted to Children's Hospital of Zhengzhou University from January 2019 to January 2021 were selected as an experimental group, and 50 healthy newborns during the same period were selected as a control group. The general data of the two groups were compared. The levels of 17-OHP, ACTH, and serum testosterone were detected. The receiver operating characteristic curve (ROC) was used to analyze the efficacies of the above indicators in identifying CAH and the best cut-off values. The areas under the ROC's (AUC) of the three indicators alone and the combination were calculated. The software SPSS 20.0 was used to analyzed the data. The independent-sample t test and χ² test were used. ROC was used for the data of the continuous variants with statistical significances. If P＜0.05, there is a statistical difference. Results　Among the 40 cases in the experimental group, there were 15 girls (37.50%) and 25 boys (62.50%), with an age of 3～7 (4.75±1.14)d. Among the 50 cases in the control group, there were 19 girls (38.00%) and 31 boys (62.00%), with an age of 3～8 (4.70±1.16) d. There were no statistical differences in the boy proportion and age between these two groups (both P>0.05). The levels of 17-OHP, ACTH, and serum testosterone in the experimental group were significantly higher than those in the control group [(132.15±34.68) nmol/L vs. (85.71±5.82) nmol/L, (52.62±12.58) pg/ml vs. (40.58±6.31)pg/ml, and (9.47±2.15) nmol/L vs. (6.23±0.32) nmol/L], with statistical differences (t=9.319, 5.907, and 10.526; all P<0.001). The single and multiple test of 17-OHP, ATCH, and serum testosterone in the subjects were completed, and it found that the best cut-off values of the above indicators were 82.43 nmol/L, 48.04 pg/ml, and 13.35 nmol/L, respectively. The AUC of the combination of 17-OHP, ATCH, and serum testosterone was 0.904, and the AUC's of 17-OHP, ATCH, and serum testosterone were 0.836, 0.877, and 0.677, respectively. The former was significantly greater than the latter, with statistical differences (all P<0.05). Conclusion　Compared with the independent detection of 17-OHP, ATCH, and serum testosterone, the combined detection in the tandem mode has better diagnostic efficiency and good early screening value.

Key words: Congenital adrenal hyperplasia, 17-OHP, Adrenocorticotropic hormone, Serum testosterone, Early screening, Application value

摘要： 目的　探讨17-羟孕酮（17-OH-progesterone，17-OHP）、促肾上腺皮质激素（adrenocorticotropic hormone，ACTH）联合血清睾酮在先天性肾上腺皮质增生症（congenital adrenal hyperplasia，CAH）新生儿早期筛查中的应用价值。方法　选定郑州大学附属儿童医院2019年1月至2021年1月收诊的40例CAH新生儿作为试验组，同期选取50例健康体检新生儿作为对照组。比较两组的一般资料，并评测17-OHP、ACTH及血清睾酮水平，利用受试者工作特征曲线（ROC）分析上述指标鉴别CAH的效能及最佳截断值，同时计算3种指标单独、联合诊断的ROC曲线下面积（AUC）。SPSS 20.0软件处理数据，采用独立样本t检验和χ²检验，ROC用于连续变量中存在统计学意义的数据绘制，P<0.05为差异有统计学意义。结果　试验组40例中，女15例（37.50%），男25例（62.50%），日龄3～7（4.75±1.14）d；对照组50例中，女19例（38.00%），男31例（62.00%），日龄3～8（4.70±1.16）d。试验组的男性占比率、日龄与对照组比较，差异均无统计学意义（均P>0.05）。试验组17-OHP［（132.15±34.68）nmol/L］、ACTH［（52.62±12.58）pg/ml］、血清睾酮［（9.47±2.15）nmol/L］水平均明显高于对照组［分别为（85.71±5.82）nmol/L、（40.58±6.31）pg/ml、（6.23±0.32）nmol/L］，差异均有统计学意义（t=9.319、5.907、10.526，均P<0.001）。以17-OHP、ATCH、血清睾酮完成对受试者的单、多项检测，发现上述指标单独诊断时的最佳截断值分别为82.43 nmol/L、48.04 pg/ml、13.35 nmol/L；17-OHP、ATCH、血清睾酮联合诊断的AUC为0.904，单独诊断的AUC分别为0.836、0.877、0.677，前者均明显大于后者，且差异均有统计学意义（均P<0.05）。结论　与17-OHP、ATCH、血清睾酮3种实验室指标的单独检测相比，其串联模式下联合检测的诊断效能更佳，具有良好的早期筛查价值。

关键词: 先天性肾上腺皮质增生症, 17-羟孕酮, 促肾上腺皮质激素, 血清睾酮, 早期筛查, 应用价值